TY - JOUR T1 - Mutations/Polymorphisms in the 55 kDa Subunit of DNA Polymerase ϵ in Human Colorectal Cancer JF - Cancer Genomics - Proteomics JO - Cancer Genomics Proteomics SP - 297 LP - 304 VL - 6 IS - 6 AU - QI ZHOU AU - KATI TALVINEN AU - JARI SUNDSTRÖM AU - ADEM ELZAGHEID AU - HELMUT POSPIECH AU - JUHANI E. SYVÄOJA AU - YRJÖ COLLAN Y1 - 2009/11/01 UR - http://cgp.iiarjournals.org/content/6/6/297.abstract N2 - Background: Defects of some DNA polymerases have shown associations with cancer, but data on DNA polymerase ϵ are limited. This study investigated mutations in the 55 kDa subunit gene of DNA polymerase ϵ in colorectal cancer. Materials and Methods: DNA from 16 human colorectal cancer and 9 control samples was studied with polymerase chain reaction–single-strand comformation polymorphism analysis and DNA sequencing. Results: DNA polymerase ϵ gene alterations were identified in 5 out of the 16 cases (31.2%). Two samples showed a T-C transition at exon 17 (potential tyrosine to histidine substitution), and an A-G transition at intron 7; one sample showed an A-G transition at intron 8. An AATT deletion was observed at intron 18 in 3 out of the 16 colon cancer cases (grades 2, 3, and 2, and Dukes' classes C, D, and C, respectively). Conclusion: Because the AATT deletion has also been found in breast cancer, the region may be a mutation hot spot, possibly involved in the carcinogenetic path in advanced colorectal cancer. ER -